Written by: Albert M. Freedman, PhD
Reading these two essays by Nicole and Philip, I am struck by how clearly they reflect the emotional landscape of living with Familial Chylomicronemia Syndrome (FCS). I write this not only as a psychologist specializing in rare disease, but also as a parent of a son who lived with a rare condition throughout his life. My personal experience shapes how I listen to stories like these, and it deepens my respect for the courage, strength, and love they reveal.
Receiving a rare disease diagnosis always brings complicated emotions. There may be relief in finally having an explanation, but also fear, grief, and uncertainty about what the future holds. Many people expect a medical diagnosis to bring clarity and closure; with rare disease, a diagnosis often heightens feelings of uncertainty. One of the most important early steps is allowing space to grieve the loss of the life you had—grief for the body that is now more fragile, the ease of spontaneity, or the future you imagined. Accepting and acknowledging what you have lost does not mean giving up; it is part of adapting to a life that is different than the one you expected to have.
Anxiety is a natural response to FCS. The unpredictability of symptoms, fear of pancreatitis, and constant vigilance around food can keep the nervous system in a heightened state of alert. From both clinical and personal perspectives, I have seen how helpful it can be to focus on what you can control rather than what you can’t control. You can not change the diagnosis, but you can control how you take care of yourself, how you create routines that work for you , and how you advocate for yourself. Simple grounding practices—such as breathing exercises, orienting to your surroundings through meditation, or simply taking a walk outdoors—can help calm the body when anxiety is an unwelcome intruder.
Dietary restrictions are among the most challenging aspects of living with FCS. Food is more than nutrition; it is an important part of social connection, tradition, sustenance, and comfort. Losing freedom around food can understandably feel deeply isolating. Many individuals find it helpful to reframe dietary management as an act of self-care rather than deprivation. Establishing reliable meal recipes and routines, planning ahead for social situations, and working with knowledgeable providers can reduce anxiety and mental fatigue.
Social limitations can be just as difficult. Canceling plans, bringing your own food, or repeatedly explaining your condition can be frustrating and drain your emotional energy. You are not obligated to educate everyone. Choosing a small circle of trusted people who understand your needs and support you can ease this burden. Setting boundaries – for yourself and others – is often a necessary skill for managing the challenges of a rare disease.
Isolation is a common experience in rare disease, both for patients and caregivers. When an illness is uncommon, it can feel as though no one truly understands. Connecting with others in the FCS community can feel both reassuring and validating. Being seen, believed, and understood without needing to provide an explanation may help you to feel less alone. There is strength in numbers.
Caregivers deserve attention as well. Living with someone you love face the challenges of a rare disease can understandably be stressful, frustrating, and isolating. As both a clinician and a parent, I have learned that caregiver strength and resilience is possible – with support, opportunities to take breaks from caregiving, and with a focus on what is possible rather than what is impossible.
Finally, these essays speak to the importance of meaning, faith, and connection. Psychological well-being in rare disease does not come from eliminating hardship, but from recognizing that you are not your rare disease. You are human beings who have knowledge, work experience, relationships, hobbies and interests, and families. And you will also hopefully discover what Nicole and Philip have discovered – a rare disease also can be accompanied by some unanticipated rare gifts – the gift of perspective; the gift of patience; the gift of empathy; and the gift of compassion.
Living with FCS is not a straight line. It is a life shaped by uncertainty, perseverance, and courage—often lived in the in-between. If you are part of this community, know that your experience is real, your struggles are valid, and you do not have to walk this journey alone.
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